Klinische FragestellungOpitz G/BBB-Syndrom, Differentialdiagnose

NGS +

• Acampomelic campomelic dysplasia (SOX9)
• Alias: Hypertelorism-hypospadias syndrome
• Alias: Hypertelorism-oesophageal abnormality-hypospadias syndrome
• Alias: Hypospadias-dysphagia syndrome
• Alias: Opitz BBB/G syndrome
• Alias: Opitz BBBG syndrome
• Alias: Opitz G/BBB syndrome
• Alias: Opitz-Frias syndrome
• Allelic: ADULT syndrome (TP63)
• Allelic: Achondrogenesis Ib (SLC26A2)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
• Allelic: Limb-mammary syndrome (TP63)
• Allelic: Popliteal pterygium syndrome 1 (IRF6)
• Allelic: Split-hand/foot malformation 4 (TP63)
• Allelic: Terminal osseous dysplasia (FLNA)
• Atelosteogenesis, type II, includes clefting [panelapp] (SLC26A2)
• Campomelic dysplasia (SOX9)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Cleft palate, toe syndactyly, periventricular nodular heterotopia [panelapp] (NEDD4L)
• Craniofrontonasal dysplasia (EFNB1)
• De la Chapelle dysplasia, includes clefting [panelapp], 256050
• Diastrophic dysplasia, broad bone-platyspondylic variant, incl. clefting (SLC26A2)
• Diastrophic dysplasia, includes clefting [panelapp] (SLC26A2)
• Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (TP63)
• FG syndrome 2 (FLNA)
• FG syndrome 4 (CASK)
• Facial clefting, oblique, 1 (SPECC1L)
• Frontometaphyseal dysplasia 1 (FLNA)
• Glass syndrome: ID, micrognathia, downslant. palpebral fiss., cleft palate, crowded teeth (SATB2)
• Hardikar syndrome (MED12)
• Hay-Wells syndrome (TP63)
• Intellectual developmental disorder, microcephaly with pontine + cerebellar hypoplasia (CASK)
• KBG syndrome (ANKRD11)
• Lujan-Fryns syndrome (MED12)
• Melnick-Needles syndrome (FLNA)
• Mental retardation, with/-out nystagmus (CASK)
• Mowat-Wilson syndrome (ZEB2)
• Ohdo syndrome, XL (MED12)
• Opitz GBBB syndrome, type I (MID1)
• Opitz GBBB syndrome, type II (SPECC1L)
• Opitz-Kaveggia syndrome (MED12)
• Orofacial Clefting with skeletal features [panelapp] SLC26A2)
• Orofacial cleft 6 (IRF6)
• Orofacial cleft 8 (TP63)
• Otopalatodigital syndrome, type I (FLNA)
• Otopalatodigital syndrome, type II (FLNA)
• Periventricular nodular heterotopia 7 (NEDD4L)
• Rapp-Hodgkin syndrome (TP63)
• Stickler syndrome, type I (COL2A1)
• Teebi hypertelorism syndrome (SPECC1L)
• van der Woude syndrome 1 (IRF6)